Fig. 3.

ES, Sanger sequencing, BDA and ddPCR results for family 15 with a paternal mosaic FLNC variant. a ES showing low coverage at variant position by. b Sanger sequencing showing ambiguous small peak for father’s blood, buccal and semen at variant position (highlighted in blue). c Gel electrophoresis with and without BDA. Noted bands with BDA are lighter than that without BDA, demonstrating the suppression of wildtype allele. d Sanger sequencing confirmed rare allele T enriched after BDA. e BDA-qPCR showing VAF of father’s sperm, buccal and blood at 22.7%, 8.7% and 12.7%, respectively. f DdPCR confirmed paternal gonosomal mosaicism with VAF of father’s sperm, buccal and blood at 35.9%, 21.4% and 22.2%, respectively